UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086563G>A | CA413185512 | CLCN5 | c.1250G>A (p.Arg417Gln) c.500G>A (p.Arg167Gln) c.1040G>A (p.Arg347Gln) c.1537G>A c.*425G>A (n.*425G>A) c.1100G>A (p.Arg367Gln) c.1262G>A (p.Arg421Gln) | gnomAD v4 |
| X | g.50086563G>C | CA413185514 | CLCN5 | c.1250G>C (p.Arg417Pro) c.500G>C (p.Arg167Pro) c.1040G>C (p.Arg347Pro) c.1537G>C c.*425G>C (n.*425G>C) c.1100G>C (p.Arg367Pro) c.1262G>C (p.Arg421Pro) | |
| X | g.50086563G>T | CA413185513 | CLCN5 | c.1250G>T (p.Arg417Leu) c.500G>T (p.Arg167Leu) c.1040G>T (p.Arg347Leu) c.1537G>T c.*425G>T (n.*425G>T) c.1100G>T (p.Arg367Leu) c.1262G>T (p.Arg421Leu) | |
| X | g.50086564A= | CA2428768906 | CLCN5 | c.1251A= (p.Arg417=) c.501A= (p.Arg167=) c.1041A= (p.Arg347=) c.1538A= c.*426A= (n.*426A=) c.1101A= (p.Arg367=) c.1263A= (p.Arg421=) | |
| X | g.50086564A>C | CA516678525 | CLCN5 | c.1251A>C (p.Arg417=) c.501A>C (p.Arg167=) c.1041A>C (p.Arg347=) c.1538A>C c.*426A>C (n.*426A>C) c.1101A>C (p.Arg367=) c.1263A>C (p.Arg421=) | |
| X | g.50086564A>G | CA10413854 | CLCN5 | c.1251A>G (p.Arg417=) c.501A>G (p.Arg167=) c.1041A>G (p.Arg347=) c.1538A>G c.*426A>G (n.*426A>G) c.1101A>G (p.Arg367=) c.1263A>G (p.Arg421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086564A>T | CA516678527 | CLCN5 | c.1251A>T (p.Arg417=) c.501A>T (p.Arg167=) c.1041A>T (p.Arg347=) c.1538A>T c.*426A>T (n.*426A>T) c.1101A>T (p.Arg367=) c.1263A>T (p.Arg421=) | |
| X | g.50086565A>C | CA413185515 | CLCN5 | c.1252A>C (p.Lys418Gln) c.502A>C (p.Lys168Gln) c.1042A>C (p.Lys348Gln) c.1539A>C c.*427A>C (n.*427A>C) c.1102A>C (p.Lys368Gln) c.1264A>C (p.Lys422Gln) | |
| X | g.50086565A>G | CA413185516 | CLCN5 | c.1252A>G (p.Lys418Glu) c.502A>G (p.Lys168Glu) c.1042A>G (p.Lys348Glu) c.1539A>G c.*427A>G (n.*427A>G) c.1102A>G (p.Lys368Glu) c.1264A>G (p.Lys422Glu) | |
| X | g.50086565A>T | CA413185517 | CLCN5 | c.1252A>T (p.Lys418Ter) c.502A>T (p.Lys168Ter) c.1042A>T (p.Lys348Ter) c.1539A>T c.*427A>T (n.*427A>T) c.1102A>T (p.Lys368Ter) c.1264A>T (p.Lys422Ter) | |
| X | g.50086566A>C | CA413185518 | CLCN5 | c.1253A>C (p.Lys418Thr) c.503A>C (p.Lys168Thr) c.1043A>C (p.Lys348Thr) c.1540A>C c.*428A>C (n.*428A>C) c.1103A>C (p.Lys368Thr) c.1265A>C (p.Lys422Thr) | |
| X | g.50086566A>G | CA413185519 | CLCN5 | c.1253A>G (p.Lys418Arg) c.503A>G (p.Lys168Arg) c.1043A>G (p.Lys348Arg) c.1540A>G c.*428A>G (n.*428A>G) c.1103A>G (p.Lys368Arg) c.1265A>G (p.Lys422Arg) | |
| X | g.50086566A>T | CA413185520 | CLCN5 | c.1253A>T (p.Lys418Met) c.503A>T (p.Lys168Met) c.1043A>T (p.Lys348Met) c.1540A>T c.*428A>T (n.*428A>T) c.1103A>T (p.Lys368Met) c.1265A>T (p.Lys422Met) | |
| X | g.50086567G>A | CA516678529 | CLCN5 | c.1254G>A (p.Lys418=) c.504G>A (p.Lys168=) c.1044G>A (p.Lys348=) c.1541G>A c.*429G>A (n.*429G>A) c.1104G>A (p.Lys368=) c.1266G>A (p.Lys422=) | |
| X | g.50086567G>C | CA413185521 | CLCN5 | c.1254G>C (p.Lys418Asn) c.504G>C (p.Lys168Asn) c.1044G>C (p.Lys348Asn) c.1541G>C c.*429G>C (n.*429G>C) c.1104G>C (p.Lys368Asn) c.1266G>C (p.Lys422Asn) | |
| X | g.50086567G>T | CA413185522 | CLCN5 | c.1254G>T (p.Lys418Asn) c.504G>T (p.Lys168Asn) c.1044G>T (p.Lys348Asn) c.1541G>T c.*429G>T (n.*429G>T) c.1104G>T (p.Lys368Asn) c.1266G>T (p.Lys422Asn) | COSMIC |
| X | g.50086568A= | CA2428768907 | CLCN5 | c.1255A= (p.Thr419=) c.505A= (p.Thr169=) c.1045A= (p.Thr349=) c.1542A= c.*430A= (n.*430A=) c.1105A= (p.Thr369=) c.1267A= (p.Thr423=) | |
| X | g.50086568A>C | CA413185523 | CLCN5 | c.1255A>C (p.Thr419Pro) c.505A>C (p.Thr169Pro) c.1045A>C (p.Thr349Pro) c.1542A>C c.*430A>C (n.*430A>C) c.1105A>C (p.Thr369Pro) c.1267A>C (p.Thr423Pro) | |
| X | g.50086568A>G | CA413185524 | CLCN5 | c.1255A>G (p.Thr419Ala) c.505A>G (p.Thr169Ala) c.1045A>G (p.Thr349Ala) c.1542A>G c.*430A>G (n.*430A>G) c.1105A>G (p.Thr369Ala) c.1267A>G (p.Thr423Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086568A>T | CA413185525 | CLCN5 | c.1255A>T (p.Thr419Ser) c.505A>T (p.Thr169Ser) c.1045A>T (p.Thr349Ser) c.1542A>T c.*430A>T (n.*430A>T) c.1105A>T (p.Thr369Ser) c.1267A>T (p.Thr423Ser) | |
| X | g.50086569C>A | CA413185528 | CLCN5 | c.1256C>A (p.Thr419Asn) c.506C>A (p.Thr169Asn) c.1046C>A (p.Thr349Asn) c.1543C>A c.*431C>A (n.*431C>A) c.1106C>A (p.Thr369Asn) c.1268C>A (p.Thr423Asn) | |
| X | g.50086569C>G | CA413185527 | CLCN5 | c.1256C>G (p.Thr419Ser) c.506C>G (p.Thr169Ser) c.1046C>G (p.Thr349Ser) c.1543C>G c.*431C>G (n.*431C>G) c.1106C>G (p.Thr369Ser) c.1268C>G (p.Thr423Ser) | gnomAD v4 |
| X | g.50086569C>T | CA413185526 | CLCN5 | c.1256C>T (p.Thr419Ile) c.506C>T (p.Thr169Ile) c.1046C>T (p.Thr349Ile) c.1543C>T c.*431C>T (n.*431C>T) c.1106C>T (p.Thr369Ile) c.1268C>T (p.Thr423Ile) | |
| X | g.50086570C>A | CA516678534 | CLCN5 | c.1257C>A (p.Thr419=) c.507C>A (p.Thr169=) c.1047C>A (p.Thr349=) c.1544C>A c.*432C>A (n.*432C>A) c.1107C>A (p.Thr369=) c.1269C>A (p.Thr423=) | |
| X | g.50086570C= | CA2428768908 | CLCN5 | c.1257C= (p.Thr419=) c.507C= (p.Thr169=) c.1047C= (p.Thr349=) c.1544C= c.*432C= (n.*432C=) c.1107C= (p.Thr369=) c.1269C= (p.Thr423=) | |
| X | g.50086570C>G | CA516678535 | CLCN5 | c.1257C>G (p.Thr419=) c.507C>G (p.Thr169=) c.1047C>G (p.Thr349=) c.1544C>G c.*432C>G (n.*432C>G) c.1107C>G (p.Thr369=) c.1269C>G (p.Thr423=) | |
| X | g.50086570C>T | CA10413855 | CLCN5 | c.1257C>T (p.Thr419=) c.507C>T (p.Thr169=) c.1047C>T (p.Thr349=) c.1544C>T c.*432C>T (n.*432C>T) c.1107C>T (p.Thr369=) c.1269C>T (p.Thr423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086571A>C | CA413185529 | CLCN5 | c.1258A>C (p.Thr420Pro) c.508A>C (p.Thr170Pro) c.1048A>C (p.Thr350Pro) c.1545A>C c.*433A>C (n.*433A>C) c.1108A>C (p.Thr370Pro) c.1270A>C (p.Thr424Pro) | |
| X | g.50086571A>G | CA413185530 | CLCN5 | c.1258A>G (p.Thr420Ala) c.508A>G (p.Thr170Ala) c.1048A>G (p.Thr350Ala) c.1545A>G c.*433A>G (n.*433A>G) c.1108A>G (p.Thr370Ala) c.1270A>G (p.Thr424Ala) | |
| X | g.50086571A>T | CA413185531 | CLCN5 | c.1258A>T (p.Thr420Ser) c.508A>T (p.Thr170Ser) c.1048A>T (p.Thr350Ser) c.1545A>T c.*433A>T (n.*433A>T) c.1108A>T (p.Thr370Ser) c.1270A>T (p.Thr424Ser) | |
| X | g.50086572C>A | CA413185532 | CLCN5 | c.1259C>A (p.Thr420Asn) c.509C>A (p.Thr170Asn) c.1049C>A (p.Thr350Asn) c.1546C>A c.*434C>A (n.*434C>A) c.1109C>A (p.Thr370Asn) c.1271C>A (p.Thr424Asn) | |
| X | g.50086572C>G | CA413185533 | CLCN5 | c.1259C>G (p.Thr420Ser) c.509C>G (p.Thr170Ser) c.1049C>G (p.Thr350Ser) c.1546C>G c.*434C>G (n.*434C>G) c.1109C>G (p.Thr370Ser) c.1271C>G (p.Thr424Ser) | gnomAD v4 |
| X | g.50086572C>T | CA413185534 | CLCN5 | c.1259C>T (p.Thr420Ile) c.509C>T (p.Thr170Ile) c.1049C>T (p.Thr350Ile) c.1546C>T c.*434C>T (n.*434C>T) c.1109C>T (p.Thr370Ile) c.1271C>T (p.Thr424Ile) | |
| X | g.50086573C>A | CA516678537 | CLCN5 | c.1260C>A (p.Thr420=) c.510C>A (p.Thr170=) c.1050C>A (p.Thr350=) c.1547C>A c.*435C>A (n.*435C>A) c.1110C>A (p.Thr370=) c.1272C>A (p.Thr424=) | |
| X | g.50086573C>G | CA516678538 | CLCN5 | c.1260C>G (p.Thr420=) c.510C>G (p.Thr170=) c.1050C>G (p.Thr350=) c.1547C>G c.*435C>G (n.*435C>G) c.1110C>G (p.Thr370=) c.1272C>G (p.Thr424=) | |
| X | g.50086573C>T | CA516678539 | CLCN5 | c.1260C>T (p.Thr420=) c.510C>T (p.Thr170=) c.1050C>T (p.Thr350=) c.1547C>T c.*435C>T (n.*435C>T) c.1110C>T (p.Thr370=) c.1272C>T (p.Thr424=) | |
| X | g.50086574C>A | CA413185535 | CLCN5 | c.1261C>A (p.Gln421Lys) c.511C>A (p.Gln171Lys) c.1051C>A (p.Gln351Lys) c.1548C>A c.*436C>A (n.*436C>A) c.1111C>A (p.Gln371Lys) c.1273C>A (p.Gln425Lys) | |
| X | g.50086574C>G | CA413185536 | CLCN5 | c.1261C>G (p.Gln421Glu) c.511C>G (p.Gln171Glu) c.1051C>G (p.Gln351Glu) c.1548C>G c.*436C>G (n.*436C>G) c.1111C>G (p.Gln371Glu) c.1273C>G (p.Gln425Glu) | |
| X | g.50086574C>T | CA413185537 | CLCN5 | c.1261C>T (p.Gln421Ter) c.511C>T (p.Gln171Ter) c.1051C>T (p.Gln351Ter) c.1548C>T c.*436C>T (n.*436C>T) c.1111C>T (p.Gln371Ter) c.1273C>T (p.Gln425Ter) | |
| X | g.50086575A= | CA2428768909 | CLCN5 | c.1262A= (p.Gln421=) c.512A= (p.Gln171=) c.1052A= (p.Gln351=) c.1549A= c.*437A= (n.*437A=) c.1112A= (p.Gln371=) c.1274A= (p.Gln425=) | |
| X | g.50086575A>C | CA413185538 | CLCN5 | c.1262A>C (p.Gln421Pro) c.512A>C (p.Gln171Pro) c.1052A>C (p.Gln351Pro) c.1549A>C c.*437A>C (n.*437A>C) c.1112A>C (p.Gln371Pro) c.1274A>C (p.Gln425Pro) | |
| X | g.50086575A>G | CA329782443 | CLCN5 | c.1262A>G (p.Gln421Arg) c.512A>G (p.Gln171Arg) c.1052A>G (p.Gln351Arg) c.1549A>G c.*437A>G (n.*437A>G) c.1112A>G (p.Gln371Arg) c.1274A>G (p.Gln425Arg) | dbSNP gnomAD v4 |
| X | g.50086575A>T | CA413185539 | CLCN5 | c.1262A>T (p.Gln421Leu) c.512A>T (p.Gln171Leu) c.1052A>T (p.Gln351Leu) c.1549A>T c.*437A>T (n.*437A>T) c.1112A>T (p.Gln371Leu) c.1274A>T (p.Gln425Leu) | |
| X | g.50086576G>A | CA516678541 | CLCN5 | c.1263G>A (p.Gln421=) c.513G>A (p.Gln171=) c.1053G>A (p.Gln351=) c.1550G>A c.*438G>A (n.*438G>A) c.1113G>A (p.Gln371=) c.1275G>A (p.Gln425=) | dbSNP gnomAD v2 |
| X | g.50086576G>C | CA413185540 | CLCN5 | c.1263G>C (p.Gln421His) c.513G>C (p.Gln171His) c.1053G>C (p.Gln351His) c.1550G>C c.*438G>C (n.*438G>C) c.1113G>C (p.Gln371His) c.1275G>C (p.Gln425His) | |
| X | g.50086576G= | CA2428768910 | CLCN5 | c.1263G= (p.Gln421=) c.513G= (p.Gln171=) c.1053G= (p.Gln351=) c.1550G= c.*438G= (n.*438G=) c.1113G= (p.Gln371=) c.1275G= (p.Gln425=) | |
| X | g.50086576G>T | CA413185541 | CLCN5 | c.1263G>T (p.Gln421His) c.513G>T (p.Gln171His) c.1053G>T (p.Gln351His) c.1550G>T c.*438G>T (n.*438G>T) c.1113G>T (p.Gln371His) c.1275G>T (p.Gln425His) | gnomAD v4 |
| X | g.50086577T>A | CA413185543 | CLCN5 | c.1264T>A (p.Leu422Met) c.514T>A (p.Leu172Met) c.1054T>A (p.Leu352Met) c.1551T>A c.*439T>A (n.*439T>A) c.1114T>A (p.Leu372Met) c.1276T>A (p.Leu426Met) | |
| X | g.50086577T>C | CA516678542 | CLCN5 | c.1264T>C (p.Leu422=) c.514T>C (p.Leu172=) c.1054T>C (p.Leu352=) c.1551T>C c.*439T>C (n.*439T>C) c.1114T>C (p.Leu372=) c.1276T>C (p.Leu426=) | |
| X | g.50086577T>G | CA413185542 | CLCN5 | c.1264T>G (p.Leu422Val) c.514T>G (p.Leu172Val) c.1054T>G (p.Leu352Val) c.1551T>G c.*439T>G (n.*439T>G) c.1114T>G (p.Leu372Val) c.1276T>G (p.Leu426Val) |